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Journal Articles

RNA Splicing Defects in Cancer-Linked Genes Indicate Mutation or Focal Gene Deletion and Are Associated with TKI Resistance in CML

Naranie Shanmuganathan, MBBS FRACP FRCPA, Daniel Thomson, PhD BSc, Carol Wadham, PhD, Verity A Saunders, Nur Hezrin Shahrin, PhD, David T Yeung, PhDBSc,FRACP,FRCPA,MBBS, Hamish S Scott, PhD FFSc (RCPA), Timothy P. Hughes, MDMBBS,FRACP,FRCPA, Andreas Schreiber, Susan Branford, PhD FFSc (RCPA)

Blood (2019) 134 (Supplement_1): 662.

https://doi.org/10.1182/blood-2019-123180

Published: 2019

Journal Articles

A cytosine-rich splice regulatory determinant enforces functional processing of the human α-globin gene transcript

Xinjun Ji, Jesse Humenik, Stephen A. Liebhaber

Blood (2019) 133 (21): 2338–2347.

https://doi.org/10.1182/blood-2018-12-891408

Published: 2019

Includes: Supplemental data

Journal Articles

A Novel Mutation Causing GATA2 Haploinsufficiency Activates a Cryptic Splice Site in Exon 3

Claudia Wehr, Katja Grotius, Dorothee Bleckmann, Emilia J Kozyra, Sebastian Bode, Björn C Frye, Marcin W. Wlodarski, MD PhD, Maximilian Seidl, Ulrich Salzer

Blood (2017) 130 (Supplement 1): 2467.

https://doi.org/10.1182/blood.V130.Suppl_1.2467.2467

Published: 2017

Journal Articles

Successful Treatment of a Diamond-Blackfan Anemia (DBA) Patient with Eltrombopag

Thomas Winkler, MD, Danielle Townsley, MD, Ronan Desmond, MD FRCPath, Bogdan Dumitriu, MD, Sophia Grasmeder, RN, BSN, OCN, Neal S. Young, Cynthia E. Dunbar, MD

Blood (2016) 128 (22): 2682.

https://doi.org/10.1182/blood.V128.22.2682.2682

Published: 2016

Journal Articles

Small Molecules Targeting the TLR Pathway Alleviate Anemia in a Zebrafish Model of MDS with Del(5q)

Jasmine Rowell, Oscar Pena, Catherine Hockings, MBBChir, MA, FRCPath, MRCP, Laura Bruce, BS, Youngrock Jung, Maria Virgilio, BS, Gregorz Pietka, Gregorio Contento, Elspeth M Payne, MD PhD

Blood (2016) 128 (22): 1131.

https://doi.org/10.1182/blood.V128.22.1131.1131

Published: 2016

Journal Articles

Aberrant Patterns of Alternative Splicing Are Frequent Events and Harbor Prognostic Significance in Patients with Myelodysplastic Syndrome

Yi-Tsung Yang, Wen-Chien Chou, MD PhD, Yu-Chiao Chiu, Hsin-An Hou, MD PhD, Jih-Luh Tang, MD PhD, Ming Yao, MD, Chi-Cheng Li, MD, Shang-Yi Huang, Bor-Sheng Ko, MD PhD, Chien-Yuan Chen, MD PhD, Szu-Chun Hsu, MD, Chien-Ting Lin, MD, Shang-Ju Wu, MD PhD, Woei Tsay, MD PhD, Hwei-Fang Tien, MD PhD

Blood (2016) 128 (22): 49.

https://doi.org/10.1182/blood.V128.22.49.49

Published: 2016

Journal Articles

Modeling Bone Marrow Failure and MDS in Shwachman Diamond Syndrome Using Induced Pluripotent Stem Cells

Melisa Ruiz-Gutierrez, MD PhD, Ozge Vargel Bolukbasi, PhD, Linda Vo, Ryohichi Sugimura, MD PhD, Marilyn Sanchez Bonilla, MS, Andriana Kotini, PhD, Carl D. Novina, MD PhD, George Q. Daley, MD PhD, Eirini P. Papapetrou, MD PhD, Akiko Shimamura, MD PhD

Blood (2016) 128 (22): 1496.

https://doi.org/10.1182/blood.V128.22.1496.1496

Published: 2016

Journal Articles

Functional Characterization of a Novel GFI1B Mutation Causing Congenital Macrothrombocytopenia

Katsumasa Kitamura, MD, Yusuke Okuno, MD PhD, Kenichi Yoshida, MD PhD, Masashi Sanada, MD PhD, Yuichi Shiraishi, MD PhD, Hideki Muramatsu, MD PhD, Ryoji Kobayashi, MD PhD, Satoru Miyano, MD PhD, Seiji Kojima, MD PhD, Seishi Ogawa, MD PhD, Shinji Kunishima, PhD

Blood (2015) 126 (23): 75.

https://doi.org/10.1182/blood.V126.23.75.75

Published: 2015

Journal Articles

Wdr1-Mediated Actin Reorganization Is Essential for Integrin αIIbβ3 Activation in Platelets

Swapan Kumar Dasgupta, PhD, Qi Da, PhD, Anhquyen Le, Miguel A. Cruz, PhD, Perumal Thiagarajan, MD

Blood (2015) 126 (23): 2231.

https://doi.org/10.1182/blood.V126.23.2231.2231

Published: 2015

Journal Articles

Allele-Specific Effects Of U2AF1 Mutations On Alternative Splicing

Theresa Okeyo-Owuor, Brian S. White, PhD, Dipika Mohan, Malachi Griffith, PhD, Matthew J. Walter, MD, Timothy Graubert, MD

Blood (2013) 122 (21): 2748.

https://doi.org/10.1182/blood.V122.21.2748.2748

Published: 2013

Journal Articles

Exome Sequencing Of Purified Hodgkin Reed-Sternberg Cells Reveals Recurrent Somatic Mutations In Genes Responsible For Antigen Presentation, Chromosome Integrity, Transcriptional Regulation and Protein Ubiquitination

Jonathan B. Reichel, Kenneth Eng, Olivier Elemento, PhD, Ethel Cesarman, MD, PhD, Mikhail Roshal, MD, PhD

Blood (2013) 122 (21): 625.

https://doi.org/10.1182/blood.V122.21.625.625

Published: 2013

Journal Articles

Karyotypic and Genetic Abnormalities Associated with Clonal Evolution in Paroxysmal Nocturnal Hemoglobinuria.

Hideki Makishima, MD, PhD, Kenichi Yoshida, MD, Michael J. Clemente, Masashi Sanada, MD, Yasunobu Nagata, MD, Manuel G. Afable, II, MD, Andres Jerez, MD, Kenichi Chiba, BA, Yuichi Shiraishi, PhD, Satoru Miyano, PhD, Seishi Ogawa, MD, PhD, Jaroslaw P. Maciejewski, MD, PhD

Blood (2012) 120 (21): 2371.

https://doi.org/10.1182/blood.V120.21.2371.2371

Published: 2012

Journal Articles

DEK and WT1 Affect Alternative Splicing of Genes Involved in Hematopoietic Cell Lineage and Resistance to Chemotherapy in Acute Myeloid Leukemia Cells.

Aminetou Mint Mohamed, Morgan Thenoz, Catherine Koering, Pierre Mallinjoud, Didier Auboeuf, Francoise Solly, Meyling Cheok, Olivier Nibourel, Claude Preudhomme, Eric Wattel, Franck Mortreux

Blood (2012) 120 (21): 2392.

https://doi.org/10.1182/blood.V120.21.2392.2392

Published: 2012

Journal Articles

Acquired Molecular Defects in Spliceosome Machinery: Novel Pathogenetic Pathways in Myeloid Leukemogenesis

Hideki Makishima, MD, PhD, Hirotoshi Sakaguchi, MD, Valeria Visconte, PhD, Andres Jerez, MD, Anna M Jankowska, PhD, Kathryn M Guinta, Hideki Muramatsu, MD, PhD, Mikkael A Sekeres, MD, Seiji Kojima, MD, PhD, Ramon V. Tiu, MD, Jaroslaw P. Maciejewski, MD, PhD

Blood (2011) 118 (21): 271.

https://doi.org/10.1182/blood.V118.21.271.271

Published: 2011

Journal Articles

Identification of Novel Point Mutations in Splicing Sites by the Integration of Exome and RNA Sequencing Data in Myeloproliferative Diseases

Roberta Spinelli, M.Sc., Rocco Piazza, MD, PhD, Hima Raman, M.Sc., Alessandra Pirola, M.Sc., Simona Valletta, M.Sc., Alessandra Stasia, MD, Carlo Gambacorti-Passerini, MD

Blood (2011) 118 (21): 2462.

https://doi.org/10.1182/blood.V118.21.2462.2462

Published: 2011

Journal Articles

High Frequency of Familial Hemophagocytic Lymphocytosis Associated Immune Gene Defects In Refractory Viral Infection of Unknown Origin

Chunrong Tong, MD, Hongxing Liu, Jianjun Xie, MD, Hui Wang, MD, Xian Zhang, MD, Fang Wang, Juan Zhu, Wen Teng, Jiangying Gu, MD, Yali Zhang, MD, Wenjun Ling, MD, Tong Wu, MD, Dao-Pei Lu, MD

Blood (2010) 116 (21): 2775.

https://doi.org/10.1182/blood.V116.21.2775.2775

Published: 2010

Journal Articles

Identification of a Novel Splice Donor Mutation In the Thrombopoietin Gene In a Philippine Family with Hereditary Thrombocythemia

Jason Gotlib, Bing Zhang, Carol D. Jones, Jonathan Riess, Wendy B. Wong, Erin F. Simonds, Matthew B. Hale, Parveen Abidi, Janell McClung, Garry P. Nolan, Stephen T. Oh, James L. Zehnder

Blood (2010) 116 (21): 3086.

https://doi.org/10.1182/blood.V116.21.3086.3086

Published: 2010

Journal Articles

Splicing Profile of Human Hyaluronan Synthase 1 (HAS1) Is Altered by Mutagenesis of (A/U)GGG Motifs.

Jitra Kriangkum, PhD, Anirban Ghosh, PhD, Amanda A. Warkentin, BSc, Andrew R. Belch, MD, Linda M. Pilarski, PhD

Blood (2009) 114 (22): 2842.

https://doi.org/10.1182/blood.V114.22.2842.2842

Published: 2009

Journal Articles

CSL-TREX: A Novel Alternatively Spliced Isoform of CSL (RBPJ-K) Predominates Over the Full-Length Isoform in Many Patients with Acute Myeloid Leukaemia, Can Activate Notch Signalling and Is Associated with Improved Outcome.

Marc R Mansour, MBChB, MRCP, Rosemary Gale, PhD, Asim Khwaja, Martin Pule, Robert Hills, MA, MSc, DPhil, Alan K. Burnett, MD, FRCP, David Linch

Blood (2008) 112 (11): 3364.

https://doi.org/10.1182/blood.V112.11.3364.3364

Published: 2008

Journal Articles

An Intron-Derived Insertion/Truncation Mutation in the BCR-ABL Kinase Domain in Three CML Patients Undergoing Kinase Inhibitor Therapy.

Jennifer Laudadio, MD, Michael W.N. Deininger, MD, Michael J. Mauro, MD, Brian J. Druker, MD, Richard D. Press, MD, PhD

Blood (2007) 110 (11): 1953.

https://doi.org/10.1182/blood.V110.11.1953.1953

Published: 2007

NARROW

RNA Splicing Defects in Cancer-Linked Genes Indicate Mutation or Focal Gene Deletion and Are Associated with TKI Resistance in CML

A cytosine-rich splice regulatory determinant enforces functional processing of the human α-globin gene transcript

A Novel Mutation Causing GATA2 Haploinsufficiency Activates a Cryptic Splice Site in Exon 3

Successful Treatment of a Diamond-Blackfan Anemia (DBA) Patient with Eltrombopag

Small Molecules Targeting the TLR Pathway Alleviate Anemia in a Zebrafish Model of MDS with Del(5q)

Aberrant Patterns of Alternative Splicing Are Frequent Events and Harbor Prognostic Significance in Patients with Myelodysplastic Syndrome

Modeling Bone Marrow Failure and MDS in Shwachman Diamond Syndrome Using Induced Pluripotent Stem Cells

Functional Characterization of a Novel GFI1B Mutation Causing Congenital Macrothrombocytopenia

Wdr1-Mediated Actin Reorganization Is Essential for Integrin αIIbβ3 Activation in Platelets

Allele-Specific Effects Of U2AF1 Mutations On Alternative Splicing

Exome Sequencing Of Purified Hodgkin Reed-Sternberg Cells Reveals Recurrent Somatic Mutations In Genes Responsible For Antigen Presentation, Chromosome Integrity, Transcriptional Regulation and Protein Ubiquitination

Karyotypic and Genetic Abnormalities Associated with Clonal Evolution in Paroxysmal Nocturnal Hemoglobinuria.

DEK and WT1 Affect Alternative Splicing of Genes Involved in Hematopoietic Cell Lineage and Resistance to Chemotherapy in Acute Myeloid Leukemia Cells.

Acquired Molecular Defects in Spliceosome Machinery: Novel Pathogenetic Pathways in Myeloid Leukemogenesis

Identification of Novel Point Mutations in Splicing Sites by the Integration of Exome and RNA Sequencing Data in Myeloproliferative Diseases

High Frequency of Familial Hemophagocytic Lymphocytosis Associated Immune Gene Defects In Refractory Viral Infection of Unknown Origin

Identification of a Novel Splice Donor Mutation In the Thrombopoietin Gene In a Philippine Family with Hereditary Thrombocythemia

Splicing Profile of Human Hyaluronan Synthase 1 (HAS1) Is Altered by Mutagenesis of (A/U)GGG Motifs.

CSL-TREX: A Novel Alternatively Spliced Isoform of CSL (RBPJ-K) Predominates Over the Full-Length Isoform in Many Patients with Acute Myeloid Leukaemia, Can Activate Notch Signalling and Is Associated with Improved Outcome.

An Intron-Derived Insertion/Truncation Mutation in the BCR-ABL Kinase Domain in Three CML Patients Undergoing Kinase Inhibitor Therapy.

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American Society of Hematology

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American Society of Hematology

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